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Identification of responsible genomic region of Primary Open Angle Glaucoma with International Consortium

Research Project

Project/Area Number 17H04046
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field General medical chemistry
Research InstitutionKyoto Prefectural University of Medicine

Principal Investigator

Tashiro Kei  京都府立医科大学, 医学(系)研究科(研究院), 教授 (10263097)

Co-Investigator(Kenkyū-buntansha) 木下 茂  京都府立医科大学, 医学(系)研究科(研究院), 教授 (30116024)
外園 千恵  京都府立医科大学, 医学(系)研究科(研究院), 教授 (30216585)
森 和彦  京都府立医科大学, 医学(系)研究科(研究院), 講師 (40252001)
池田 陽子  京都府立医科大学, 医学(系)研究科(研究院), 客員講師 (00433243)
上野 盛夫  京都府立医科大学, 医学(系)研究科(研究院), 助教 (40426531)
中野 正和  京都府立医科大学, 医学(系)研究科(研究院), 准教授 (70381944)
吉井 健悟  京都府立医科大学, 医学(系)研究科(研究院), 講師 (90388471)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥17,810,000 (Direct Cost: ¥13,700,000、Indirect Cost: ¥4,110,000)
Fiscal Year 2019: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2018: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2017: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
Keywords緑内障 / 全ゲノム関連解析 / GWAS / 多因子疾患 / ゲノム / DNAアレイ / DNAチップ / ゲノム医化学
Outline of Final Research Achievements

Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness. LOXL1 and CACNA1A were known as important variants. To further elucidate the genetics of XFS, Using ASA chip, which is most powerful DNA array for Genome wide Association Study, 1350 glaucoma cases and 650 negative controls were genotyped. Results were analyzed with those in Singapore National Eye Center. For exfoliation syndrome, 5 new important associating loci were identified, namely, 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1variants in glaucoma disease biology.

Academic Significance and Societal Importance of the Research Achievements

緑内障に関するこれらの発見は、国際共同研究が実現できたことによって得られた知見である。これらの重要性は、人種を越えて共通であり、人類の緑内障への理解を深め、対策のための落屑緑内障発症の分子機序解明の糸口となる確かな出発点として分子標的となる発見である。今後、人類は、この成果に基づく緑内障治療法の研究をすすめていくことができる。この成果の重要性は広く認識されるに至っており、本研究代表を共同責任著者に、分担研究者を共同筆頭著者にする論文としてNature Genetics誌に掲載された。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Annual Research Report
  • 2017 Annual Research Report
  • Research Products

    (30 results)

All 2020 2019 2018 2017 Other

All Int'l Joint Research (6 results) Journal Article (13 results) (of which Int'l Joint Research: 6 results,  Peer Reviewed: 13 results,  Open Access: 6 results) Presentation (10 results) Book (1 results)

  • [Int'l Joint Research] Singapore Eye Research Institute/Singapore National Eye Center/National University of Singapore(シンガポール)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] University Duisburg-Essen/University of Bonn/University of Heidelberg(ドイツ)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] Jinan University/Capital Medical University/Sichuan Translational Research Hospital(中国)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] Case Western Reserve University/University of Florida/Duke University Eye Center(米国)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] Aravind Eye Hospital/GROW Research Laboratory/Narayana Nethralaya Eye Hospital(インド)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research]

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Isolation and Characterization of Mammalian Otic Progenitor Cells that Can Differentiate into Both Sensory Epithelial and Neuronal Cell Lineages2020

    • Author(s)
      Kojima Ken、Nishida Akiko T.、Tashiro Kei、Hirota Kiichi、Nishio Takeshi、Murata Miyahiko、Kato Nobuo、Kawaguchi Saburo、Zine Azel、Ito Juichi、Water Thomas R.
    • Journal Title

      The Anatomical Record

      Volume: 303 Issue: 3 Pages: 451-460

    • DOI

      10.1002/ar.24335

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy2019

    • Author(s)
      Okumura N, Hayashi R, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Ueda E, Nakahara M, Weller J, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N
    • Journal Title

      Cornea

      Volume: 38(7) Issue: 7 Pages: 799-805

    • DOI

      10.1097/ico.0000000000001952

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Differential expression of individual transcript variants of PD-1 and PD-L2 genes on Th-1/Th-2 status is guaranteed for prognosis prediction in PCNSL2019

    • Author(s)
      Takashima Y, Kawaguchi A, Sato R, Yoshida K, Hayano A, Homma J, Fukai J, Iwadate Y, Kajiwara K, Ishizawa S, Hondoh H, Nakano M, Ogawa S, Tashiro K, Yamanaka R
    • Journal Title

      Sci Rep

      Volume: 9(1) Issue: 1 Pages: 10004-10004

    • DOI

      10.1038/s41598-019-46473-5

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy2019

    • Author(s)
      Okumura Naoki、Puangsricharern Vilavun、Jindasak Raina、Koizumi Noriko、Komori Yuya、Ryousuke Hayashi、Nakahara Makiko、Nakano Masakazu、Adachi Hiroko、Tashiro Kei、Yoshii Kengo、Chantaren Patchima、Ittiwut Rungnapa、Shotelersuk Vorasuk、Suphapeetiporn Kanya
    • Journal Title

      Eye

      Volume: - Issue: 5 Pages: 880-885

    • DOI

      10.1038/s41433-019-0595-8

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Towards genomic database of Alexander disease to identify variations modifying disease phenotype2019

    • Author(s)
      Yasuda Rei、Nakano Masakazu、Yoshida Tomokatsu、Sato Ryuichi、Adachi Hiroko、Tokuda Yuichi、Mizuta Ikuko、Saito Kozo、Matsuura Jun、Nakagawa Masanori、Tashiro Kei、Mizuno Toshiki
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1

    • DOI

      10.1038/s41598-019-51390-8

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Nafamostat and sepimostat identified as novel neuroprotective agents via NR2B N-methyl-D-aspartate receptor antagonism using a rat retinal excitotoxicity model2019

    • Author(s)
      Fuwa Masahiro、Kageyama Masaaki、Ohashi Koji、Sasaoka Masaaki、Sato Ryuichi、Tanaka Masami、Tashiro Kei
    • Journal Title

      Scientific Reports

      Volume: 9 Issue: 1

    • DOI

      10.1038/s41598-019-56905-x

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] BRD4-Regulated Molecular Targets in Mantle Cell Lymphoma: Insights into Targeted Therapeutic Approach2019

    • Author(s)
      TSUKAMOTO TAKU、NAKAHATA SHINGO、SATO RYUICHI、KANAI AKINORI、NAKANO MASAKAZU、CHINEN YOSHIAKI、MAEGAWA-MATSUI SAORI、MATSUMURA-KIMOTO YAYOI、TAKIMOTO-SHIMOMURA TOMOKO、MIZUNO YOSHIMI、KUWAHARA-OTA SAEKO、KAWAJI YUKA、TANIWAKI MASAFUMI、INABA TOSHIYA、TASHIRO KEI、MORISHITA KAZUHIRO、KURODA JUNYA
    • Journal Title

      Cancer Genomics - Proteomics

      Volume: 17 Issue: 1 Pages: 77-89

    • DOI

      10.21873/cgp.20169

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] C/EBPβ is a critical mediator of IFNα-induced exhaustion of chronic myeloid leukemia stem cells.2019

    • Author(s)
      Yokota A, Hirai H, Sato R, Adachi H, Sato F, Hayashi Y, Sato A, Kamino N, Miura Y, Nakano M, Tenen DG, Kimura S, Tashiro K, Maekawa T
    • Journal Title

      Blood Advances

      Volume: 3 Issue: 3 Pages: 476-488

    • DOI

      10.1182/bloodadvances.2018020503

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy2019

    • Author(s)
      Okumura N, Hayashi R, Nakano M, Yoshii K, Tashiro K, Sato T, Blake DJ, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Komori Y, Nakahara M, Tourtas T, Schlötzer-Schrehardt U, Kruse F, Koizumi N
    • Journal Title

      Invest Ophthalmol Vis Sci

      Volume: 60(2) Issue: 2 Pages: 779-786

    • DOI

      10.1167/iovs.18-25760

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Aberrant astrocyte Ca2+ signals “AxCa signals” exacerbate pathological alterations in an Alexander disease model2018

    • Author(s)
      Saito Kozo、Shigetomi Eiji、Yasuda Rei、Sato Ryuichi、Nakano Masakazu、Tashiro Kei、Tanaka Kenji F.、Ikenaka Kazuhiro、Mikoshiba Katsuhiko、Mizuta Ikuko、Yoshida Tomokatsu、Nakagawa Masanori、Mizuno Toshiki、Koizumi Schuichi
    • Journal Title

      Glia

      Volume: 66 Issue: 5 Pages: 1053-1067

    • DOI

      10.1002/glia.23300

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Downregulation of EGFR in a metastatic brain lesion of EGFR-mutated non-small cell lung cancer using a tyrosine kinase inhibitor: A case report.2017

    • Author(s)
      Takagaki M, Kinoshita M, Nishino K, Nakano M, Adachi H, Ueno M, Kitamura M, Fujimoto Y, Tashiro K, Tomita Y, Imamura F, Yoshimine T.
    • Journal Title

      Oncol. Lett.

      Volume: 13 Issue: 4 Pages: 2085-2088

    • DOI

      10.3892/ol.2017.5677

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci2017

    • Author(s)
      Aung Tin、Ozaki Mineo、Lee Mei Chin、Sugimoto Takako、Chuman Hideki
    • Journal Title

      Nature Genetics

      Volume: 49 Issue: 7 Pages: 993-1004

    • DOI

      10.1038/ng.3875

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.2017

    • Author(s)
      Tsukamoto T, Nakano M, Sato R, Adachi H, Kiyota M, Kawata E, Uoshima N, Yasukawa S, Chinen Y, Mizutani S, Shimura Y, Kobayashi T, Horiike S, Yanagisawa A, Taniwaki M, Tashiro K, Kuroda J.
    • Journal Title

      Sci. Rep.

      Volume: 7 Issue: 1 Pages: 14039-14039

    • DOI

      10.1038/s41598-017-14150-0

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Presentation] 中枢神経系原発悪性リンパ腫におけるTh1/Th2バランスとPD-1およびPD-L2遺伝子発現による予後予測2019

    • Author(s)
      高島康郎, 川口淳, 佐藤隆一, 吉田健一, 早野あづさ, 本間順平, 深井順也, 岩立康男, 梶原浩司, 石澤伸, 本道洋昭, 中野正和, 小川誠司, 田代啓, 山中龍也.
    • Organizer
      第42回日本分子生物学会年会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 新規遺伝子転座UBAP2L-ABL1を有するT細胞性急性リンパ性白血病2019

    • Author(s)
      川原勇太, 新島瞳, 翁由紀子, 早瀬朋美, 今村俊彦, 中野正和, 田代啓, 森本哲.
    • Organizer
      第81回日本血液学会学術集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 新生仔期マウス網膜の遺伝子発現情報のパスウェイ解析, 第92回日本生化学会大会2019

    • Author(s)
      徳田雄市, 足立博子, 富永洋之, 丸山悠子, 米田一仁, 丸山和一, 外園千恵, 木下茂, 中野正和, 田代啓.
    • Organizer
      第92回日本生化学会大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Association of trinucleotide repeat expansion length in TCF4 with the severity of Fuchs Endothelial Corneal Dystrophy.2019

    • Author(s)
      Komori Y, Okumura N, Weller J, Nakano M, Tashiro K, Yoshii K, Aleff R, Butz M, Highsmith EW, Wieben ED, Fautsch MP, Baratz KH, Tourtas T, Kruse FE, Koizumi N et al.
    • Organizer
      10th EuCornea Congress
    • Related Report
      2019 Annual Research Report
  • [Presentation] 日本人集団によるフックス角膜内皮変性症関連候補領域のゲノム解析2018

    • Author(s)
      徳田雄市, 足立博子, 池田陽子, 上野盛夫, 外園千恵, 木下茂, 中野正和, 田代啓.
    • Organizer
      第41回日本分子生物学会年会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 機能未知遺伝子のデータベースを利用した解析方法の検討2018

    • Author(s)
      田中雅深, 徳田雄市, 八木知人, 田代啓.
    • Organizer
      第41回日本分子生物学会年会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Genetic analyses of Fuchs endothelial corneal dystrophy in a Japanese population.2018

    • Author(s)
      Nakano M, Tokuda Y, Adachi H, Ikeda Y, Ueno M, Sotozono C, Kinoshita S, Tashiro K.
    • Organizer
      68th Annual Meeting of the American Society of Human Genetics
    • Related Report
      2018 Annual Research Report
  • [Presentation] マウス新生仔期網膜の発現情報の遺伝子オントロジー解析2018

    • Author(s)
      徳田雄市, 足立博子, 富永洋之, 丸山悠子, 米田一仁, 丸山和一, 外園千恵, 木下茂, 中野正和, 田代啓.
    • Organizer
      第91回日本生化学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 発達段階のマウス網膜の網羅的発現解析により同定された血管新生関連遺伝子の機能解析2017

    • Author(s)
      足立博子, 富永洋之, 丸山悠子, 米田一仁, 丸山和一, 外園千恵, 木下茂, 中野正和, 田代啓.
    • Organizer
      生命科学系学会合同年次大会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 公共データベースを活用した新規遺伝子の機能解析2017

    • Author(s)
      田中雅深, 徳田雄市, 八木知人, 田代啓.
    • Organizer
      生命科学系学会合同年次大会
    • Related Report
      2017 Annual Research Report
  • [Book] 遺伝子医学MOOK別冊 第1章総論 3.多因子疾患の遺伝要因探索の歴史と現状2018

    • Author(s)
      櫻井晃洋 編(分担執筆)
    • Total Pages
      300
    • Publisher
      メディカルドゥ
    • ISBN
      9784944157266
    • Related Report
      2018 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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